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β-葡萄糖醛酸酶缺乏症作为胎儿反复水肿的病因：首例通过绒毛取样进行的早期产前诊断

Beta-glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling.

作者信息

Van Eyndhoven H W, Ter Brugge H G, Van Essen A J, Kleijer W J

机构信息

Department of Obstetrics and Gynaecology, De Weezenlanden Ziekenhuis, Zwolle, The Netherlands.

出版信息

Prenat Diagn. 1998 Sep;18(9):959-62. doi: 10.1002/(sici)1097-0223(199809)18:9<959::aid-pd372>3.0.co;2-i.

DOI:10.1002/(sici)1097-0223(199809)18:9<959::aid-pd372>3.0.co;2-i
PMID:9793981
Abstract

We describe a patient with recurrent non-immune hydrops fetalis diagnosed as mucopolysaccharidosis type VII. This rare autosomal recessive disorder is caused by a beta-glucuronidase deficiency. Chorionic villus sampling was performed in the 11th week of the subsequent pregnancy and beta-glucuronidase deficiency in chorionic villi indicated that the fetus was affected. After termination in the 12th week, signs of early hydrops fetalis were observed.

摘要

我们描述了一名被诊断为黏多糖贮积症VII型的复发性非免疫性胎儿水肿患者。这种罕见的常染色体隐性疾病是由β-葡萄糖醛酸酶缺乏引起的。在随后的妊娠第11周进行了绒毛取样，绒毛中β-葡萄糖醛酸酶缺乏表明胎儿受到影响。在第12周终止妊娠后，观察到早期胎儿水肿的迹象。

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